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DNAJC28 DnaJ heat shock protein family (Hsp40) member C28 [ Homo sapiens (human) ]

Gene ID: 54943, updated on 5-Mar-2024

Summary

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Official Symbol
DNAJC28provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C28provided by HGNC
Primary source
HGNC:HGNC:1297
See related
Ensembl:ENSG00000177692 AllianceGenome:HGNC:1297
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C21orf55; C21orf78
Summary
This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]
Expression
Broad expression in testis (RPKM 4.6), thyroid (RPKM 2.4) and 23 other tissues See more
Orthologs
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Genomic context

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See DNAJC28 in Genome Data Viewer
Location:
21q22.11
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33488055..33491716, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31869887..31873548, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34860362..34864023, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene interferon gamma receptor 2 Neighboring gene transmembrane protein 50B Neighboring gene RPS5 pseudogene 3 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:34903402-34904601 Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34914753-34915484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13261 Neighboring gene microRNA 6501 Neighboring gene SON DNA and RNA binding protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. Gardiner K, et al. Genomics, 2002 Jun. PMID 12036298
  2. A systematic survey of loss-of-function variants in human protein-coding genes. MacArthur DG, et al. Science, 2012 Feb 17. PMID 22344438, Free PMC Article
  3. Identification of a large set of rare complete human knockouts. Sulem P, et al. Nat Genet, 2015 May. PMID 25807282
  4. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. Dowling JK, et al. J Biol Chem, 2014 Mar 7. PMID 24407287, Free PMC Article
  5. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes. Rausell A, et al. Proc Natl Acad Sci U S A, 2020 Jun 16. PMID 32487729, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
dnaJ homolog subfamily C member 28
Names
DnaJ (Hsp40) homolog, subfamily C, member 28

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051991.1 RefSeqGene

    Range
    5008..8669
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001040192.3 → NP_001035282.1  dnaJ homolog subfamily C member 28

    See identical proteins and their annotated locations for NP_001035282.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AI825667, BC029509, CB241459
    Consensus CDS
    CCDS13626.1
    UniProtKB/Swiss-Prot
    D3DSF2, Q9NX36
    Related
    ENSP00000371373.3, ENST00000381947.4
    Conserved Domains (3) summary
    cd06257
    Location:51 → 104
    DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    PLN03085
    Location:200 → 338
    PLN03085; nucleobase:cation symporter-1; Provisional
    pfam09350
    Location:203 → 271
    DUF1992; Domain of unknown function (DUF1992)

  2. NM_001320746.3 → NP_001307675.1  dnaJ homolog subfamily C member 28

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AP000302
    Consensus CDS
    CCDS13626.1
    UniProtKB/Swiss-Prot
    D3DSF2, Q9NX36
    Conserved Domains (3) summary
    cd06257
    Location:51 → 104
    DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    PLN03085
    Location:200 → 338
    PLN03085; nucleobase:cation symporter-1; Provisional
    pfam09350
    Location:203 → 271
    DUF1992; Domain of unknown function (DUF1992)

  3. NM_017833.5 → NP_060303.2  dnaJ homolog subfamily C member 28

    See identical proteins and their annotated locations for NP_060303.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AI825667, AK000468, CB241459, DA249316
    Consensus CDS
    CCDS13626.1
    UniProtKB/Swiss-Prot
    D3DSF2, Q9NX36
    Related
    ENSP00000320303.3, ENST00000314399.3
    Conserved Domains (3) summary
    cd06257
    Location:51 → 104
    DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
    PLN03085
    Location:200 → 338
    PLN03085; nucleobase:cation symporter-1; Provisional
    pfam09350
    Location:203 → 271
    DUF1992; Domain of unknown function (DUF1992)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    33488055..33491716 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    92184..95846 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    31869887..31873548 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX36.2 GenPept UniProtKB/Swiss-Prot:Q9NX36

Gene LinkOut

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